CCDC169-SOHLH2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sperm motility (GO:0030317)7.74210313
2sperm capacitation (GO:0048240)7.63620706
3rRNA methylation (GO:0031167)6.58434640
4rRNA modification (GO:0000154)6.54914320
5multicellular organism reproduction (GO:0032504)5.81915130
6acrosome reaction (GO:0007340)5.71953814
7sperm-egg recognition (GO:0035036)5.42031264
8response to pheromone (GO:0019236)5.39259752
9fusion of sperm to egg plasma membrane (GO:0007342)5.38462712
10single strand break repair (GO:0000012)5.30091779
11centriole replication (GO:0007099)4.95124797
12spermatid development (GO:0007286)4.89114501
13spermatid nucleus differentiation (GO:0007289)4.80792560
14chromosome condensation (GO:0030261)4.74335941
15DNA packaging (GO:0006323)4.72825188
16regulation of centriole replication (GO:0046599)4.70305326
17reproduction (GO:0000003)4.65285574
18microtubule depolymerization (GO:0007019)4.57803177
19plasma membrane fusion (GO:0045026)4.53277201
20histone exchange (GO:0043486)4.53188355
21protein polyglutamylation (GO:0018095)4.27284850
22cell-cell recognition (GO:0009988)4.26934013
23binding of sperm to zona pellucida (GO:0007339)4.21780835
24microtubule polymerization or depolymerization (GO:0031109)4.08390588
25DNA double-strand break processing (GO:0000729)4.01804723
26mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.90788941
27single fertilization (GO:0007338)3.89651755
28centriole assembly (GO:0098534)3.88318737
29chromatin remodeling at centromere (GO:0031055)3.66402936
30proteasome assembly (GO:0043248)3.61920446
31CENP-A containing nucleosome assembly (GO:0034080)3.57328416
32spermatogenesis (GO:0007283)3.56684557
33male gamete generation (GO:0048232)3.56114173
34ribosomal small subunit assembly (GO:0000028)3.50910748
35negative regulation of inclusion body assembly (GO:0090084)3.50150613
36regulation of cilium movement (GO:0003352)3.39148951
37gamete generation (GO:0007276)3.33048717
38fertilization (GO:0009566)3.26744136
39axonemal dynein complex assembly (GO:0070286)3.26301396
40regulation of mitochondrial translation (GO:0070129)3.22212873
41somatic diversification of immune receptors via somatic mutation (GO:0002566)3.20294467
42somatic hypermutation of immunoglobulin genes (GO:0016446)3.20294467
43regulation of mitotic spindle checkpoint (GO:1903504)3.19328706
44regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.19328706
45phosphatidylethanolamine biosynthetic process (GO:0006646)3.16806740
46chaperone-mediated protein transport (GO:0072321)3.16222600
47ribosome assembly (GO:0042255)3.15325335
48protein-DNA complex disassembly (GO:0032986)3.15120593
49nucleosome disassembly (GO:0006337)3.15120593
50protein-chromophore linkage (GO:0018298)3.14287465
51ATP synthesis coupled proton transport (GO:0015986)3.12663350
52energy coupled proton transport, down electrochemical gradient (GO:0015985)3.12663350
53establishment of integrated proviral latency (GO:0075713)3.12644216
54microtubule severing (GO:0051013)3.07133948
55DNA strand elongation involved in DNA replication (GO:0006271)3.04488661
56seminiferous tubule development (GO:0072520)3.03548302
57lung-associated mesenchyme development (GO:0060484)2.96975040
58establishment of protein localization to mitochondrial membrane (GO:0090151)2.94265910
59glycerol ether metabolic process (GO:0006662)2.91607591
60telomere maintenance via semi-conservative replication (GO:0032201)2.89803052
61protein complex biogenesis (GO:0070271)2.87772944
62DNA strand elongation (GO:0022616)2.87594754
63histone mRNA metabolic process (GO:0008334)2.87250095
64DNA ligation (GO:0006266)2.86580457
65mitochondrial respiratory chain complex assembly (GO:0033108)2.86237290
66ATP-dependent chromatin remodeling (GO:0043044)2.86209423
67phosphatidylethanolamine metabolic process (GO:0046337)2.85935886
68respiratory chain complex IV assembly (GO:0008535)2.85266581
69replication fork processing (GO:0031297)2.83565762
70cellular ketone body metabolic process (GO:0046950)2.83277482
71DNA replication checkpoint (GO:0000076)2.82131573
72rhodopsin mediated signaling pathway (GO:0016056)2.81991157
73regulation of histone H3-K9 methylation (GO:0051570)2.80506787
74nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.80357453
75germ cell development (GO:0007281)2.79119818
76calcium ion-dependent exocytosis (GO:0017156)2.77415144
77epithelial cilium movement (GO:0003351)2.77145659
78exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.76279215
79cell wall macromolecule catabolic process (GO:0016998)2.75706666
80cytochrome complex assembly (GO:0017004)2.74240214
81purine nucleobase biosynthetic process (GO:0009113)2.73998164
82cellular process involved in reproduction in multicellular organism (GO:0022412)2.73774191
83synapsis (GO:0007129)2.72476823
84negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.69850258
85pseudouridine synthesis (GO:0001522)2.69715494
86DNA replication-independent nucleosome assembly (GO:0006336)2.67750302
87DNA replication-independent nucleosome organization (GO:0034724)2.67750302
88RNA methylation (GO:0001510)2.66835868
89ether metabolic process (GO:0018904)2.66426137
90rRNA processing (GO:0006364)2.61939156
91transcription elongation from RNA polymerase III promoter (GO:0006385)2.61659064
92termination of RNA polymerase III transcription (GO:0006386)2.61659064
93peptidyl-histidine modification (GO:0018202)2.61199536
94mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.60965627
95mitochondrial respiratory chain complex I assembly (GO:0032981)2.60965627
96NADH dehydrogenase complex assembly (GO:0010257)2.60965627
97cell wall macromolecule metabolic process (GO:0044036)2.58215784
98DNA catabolic process, exonucleolytic (GO:0000738)2.57450890
99protein targeting to Golgi (GO:0000042)2.56746245
100regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.56285091

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.30651669
2MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.83577554
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.71743548
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.05033906
5MYC_18555785_ChIP-Seq_MESCs_Mouse2.98822949
6EST1_17652178_ChIP-ChIP_JURKAT_Human2.98804329
7GABP_17652178_ChIP-ChIP_JURKAT_Human2.96947765
8E2F4_17652178_ChIP-ChIP_JURKAT_Human2.81887357
9TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.75672447
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.66992388
11SALL1_21062744_ChIP-ChIP_HESCs_Human2.62734195
12FUS_26573619_Chip-Seq_HEK293_Human2.56269450
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.55360369
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.38649742
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.36329218
16JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.34758538
17TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.10102368
18HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.08014014
19ZNF274_21170338_ChIP-Seq_K562_Hela2.06645461
20MYC_18358816_ChIP-ChIP_MESCs_Mouse1.91866689
21MYC_19030024_ChIP-ChIP_MESCs_Mouse1.90474703
22YY1_21170310_ChIP-Seq_MESCs_Mouse1.86712914
23ELK1_19687146_ChIP-ChIP_HELA_Human1.83178788
24VDR_23849224_ChIP-Seq_CD4+_Human1.77938536
25MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.74590029
26THAP11_20581084_ChIP-Seq_MESCs_Mouse1.74503544
27MYC_19079543_ChIP-ChIP_MESCs_Mouse1.74228324
28HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.73056609
29FOXP3_21729870_ChIP-Seq_TREG_Human1.72630454
30NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.68734710
31POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.67719200
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.66285286
33EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.63264596
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.63094057
35IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.58983923
36CBP_20019798_ChIP-Seq_JUKART_Human1.58983923
37EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.58445473
38TAF15_26573619_Chip-Seq_HEK293_Human1.56506071
39TTF2_22483619_ChIP-Seq_HELA_Human1.55605432
40FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.53478306
41PADI4_21655091_ChIP-ChIP_MCF-7_Human1.50591187
42MYC_18940864_ChIP-ChIP_HL60_Human1.50262771
43P300_19829295_ChIP-Seq_ESCs_Human1.45807964
44VDR_22108803_ChIP-Seq_LS180_Human1.40143460
45ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.38116397
46PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.37113891
47DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.36886189
48HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.34848680
49YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.33775940
50IGF1R_20145208_ChIP-Seq_DFB_Human1.29549198
51POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.25935138
52E2F1_18555785_ChIP-Seq_MESCs_Mouse1.23613969
53RBPJ_21746931_ChIP-Seq_IB4_Human1.22069526
54XRN2_22483619_ChIP-Seq_HELA_Human1.21734206
55TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20239123
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20239123
57NANOG_19829295_ChIP-Seq_ESCs_Human1.19051654
58SOX2_19829295_ChIP-Seq_ESCs_Human1.19051654
59KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.18855606
60EWS_26573619_Chip-Seq_HEK293_Human1.18806740
61NANOG_20526341_ChIP-Seq_ESCs_Human1.18316020
62PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.17881853
63E2F1_21310950_ChIP-Seq_MCF-7_Human1.17215076
64ERG_20517297_ChIP-Seq_VCAP_Human1.16295700
65IRF1_19129219_ChIP-ChIP_H3396_Human1.16183157
66SRF_21415370_ChIP-Seq_HL-1_Mouse1.14463886
67FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.14359998
68POU5F1_16153702_ChIP-ChIP_HESCs_Human1.11730307
69SOX2_16153702_ChIP-ChIP_HESCs_Human1.11558118
70NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.11482050
71AUTS2_25519132_ChIP-Seq_293T-REX_Human1.11016612
72TP63_19390658_ChIP-ChIP_HaCaT_Human1.10643261
73CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.08440816
74NANOG_16153702_ChIP-ChIP_HESCs_Human1.07904194
75MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.07788488
76SOX2_18555785_ChIP-Seq_MESCs_Mouse1.07743111
77CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.07539830
78UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06660866
79ETV1_20927104_ChIP-Seq_GIST48_Human1.05684074
80HNFA_21074721_ChIP-Seq_CACO-2_Human1.04956067
81ER_23166858_ChIP-Seq_MCF-7_Human1.03996108
82DCP1A_22483619_ChIP-Seq_HELA_Human1.03083851
83NELFA_20434984_ChIP-Seq_ESCs_Mouse1.02567795
84EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.02116929
85KLF5_20875108_ChIP-Seq_MESCs_Mouse1.01372545
86CBX2_22325352_ChIP-Seq_293T-Rex_Human1.01137742
87EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.99835385
88PHF8_20622853_ChIP-Seq_HELA_Human0.99485884
89GATA6_21074721_ChIP-Seq_CACO-2_Human0.98513347
90NFYB_21822215_ChIP-Seq_K562_Human0.97766452
91FOXA1_27270436_Chip-Seq_PROSTATE_Human0.97596378
92FOXA1_25329375_ChIP-Seq_VCAP_Human0.97596378
93POU3F2_20337985_ChIP-ChIP_501MEL_Human0.97497579
94GABP_19822575_ChIP-Seq_HepG2_Human0.97330963
95MYC_19829295_ChIP-Seq_ESCs_Human0.95734462
96PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.95539683
97ETV2_25802403_ChIP-Seq_MESCs_Mouse0.95380301
98MYCN_18555785_ChIP-Seq_MESCs_Mouse0.94031595
99RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.93933149
100RAC3_21632823_ChIP-Seq_H3396_Human0.93480072

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization6.29537296
2MP0002638_abnormal_pupillary_reflex3.89472092
3MP0003718_maternal_effect3.00332938
4MP0002102_abnormal_ear_morphology2.91876487
5MP0003698_abnormal_male_reproductive2.73913707
6MP0001929_abnormal_gametogenesis2.73248270
7MP0004957_abnormal_blastocyst_morpholog2.66039990
8MP0008877_abnormal_DNA_methylation2.61842959
9MP0005670_abnormal_white_adipose2.52979150
10MP0005377_hearing/vestibular/ear_phenot2.49410252
11MP0003878_abnormal_ear_physiology2.49410252
12MP0003693_abnormal_embryo_hatching2.48751709
13MP0010094_abnormal_chromosome_stability2.42411955
14MP0008058_abnormal_DNA_repair2.42204454
15MP0006292_abnormal_olfactory_placode2.25654916
16MP0003077_abnormal_cell_cycle2.21001513
17MP0001984_abnormal_olfaction2.03570481
18MP0003646_muscle_fatigue1.86053068
19MP0008057_abnormal_DNA_replication1.84831609
20MP0009697_abnormal_copulation1.78127892
21MP0002132_abnormal_respiratory_system1.76074395
22MP0003111_abnormal_nucleus_morphology1.74541914
23MP0003283_abnormal_digestive_organ1.71278505
24MP0003011_delayed_dark_adaptation1.68524299
25MP0002822_catalepsy1.65447336
26MP0003941_abnormal_skin_development1.63511534
27MP0002210_abnormal_sex_determination1.62517448
28MP0002161_abnormal_fertility/fecundity1.61930152
29MP0008995_early_reproductive_senescence1.61528783
30MP0001293_anophthalmia1.60877352
31MP0002736_abnormal_nociception_after1.57926551
32MP0001968_abnormal_touch/_nociception1.53729970
33MP0000372_irregular_coat_pigmentation1.52872906
34MP0001764_abnormal_homeostasis1.52361556
35MP0005253_abnormal_eye_physiology1.50782252
36MP0002282_abnormal_trachea_morphology1.47341468
37MP0003806_abnormal_nucleotide_metabolis1.46903328
38MP0001485_abnormal_pinna_reflex1.44637984
39MP0002234_abnormal_pharynx_morphology1.38529818
40MP0001145_abnormal_male_reproductive1.38192467
41MP0002938_white_spotting1.35390203
42MP0008932_abnormal_embryonic_tissue1.33281500
43MP0005084_abnormal_gallbladder_morpholo1.31701483
44MP0000653_abnormal_sex_gland1.29234768
45MP0003119_abnormal_digestive_system1.27027838
46MP0006036_abnormal_mitochondrial_physio1.24921520
47MP0003136_yellow_coat_color1.24443564
48MP0009379_abnormal_foot_pigmentation1.17636020
49MP0000678_abnormal_parathyroid_gland1.17248074
50MP0001529_abnormal_vocalization1.16733902
51MP0001486_abnormal_startle_reflex1.15730499
52MP0002735_abnormal_chemical_nociception1.13070449
53MP0005551_abnormal_eye_electrophysiolog1.11772477
54MP0006035_abnormal_mitochondrial_morpho1.11340760
55MP0000049_abnormal_middle_ear1.10903093
56MP0004147_increased_porphyrin_level1.05197944
57MP0008789_abnormal_olfactory_epithelium1.03438268
58MP0003121_genomic_imprinting1.01690750
59MP0003786_premature_aging0.95200834
60MP0003186_abnormal_redox_activity0.92963489
61MP0002653_abnormal_ependyma_morphology0.91025434
62MP0005499_abnormal_olfactory_system0.90524883
63MP0005394_taste/olfaction_phenotype0.90524883
64MP0005423_abnormal_somatic_nervous0.87411259
65MP0004215_abnormal_myocardial_fiber0.87218316
66MP0003567_abnormal_fetal_cardiomyocyte0.85494861
67MP0002085_abnormal_embryonic_tissue0.84766765
68MP0003937_abnormal_limbs/digits/tail_de0.84568837
69MP0001286_abnormal_eye_development0.84427492
70MP0005391_vision/eye_phenotype0.83572141
71MP0008007_abnormal_cellular_replicative0.83085156
72MP0001905_abnormal_dopamine_level0.82602656
73MP0005395_other_phenotype0.82079932
74MP0002254_reproductive_system_inflammat0.81602678
75MP0005379_endocrine/exocrine_gland_phen0.78085016
76MP0001730_embryonic_growth_arrest0.76592650
77MP0003950_abnormal_plasma_membrane0.76461418
78MP0006072_abnormal_retinal_apoptosis0.74621183
79MP0001299_abnormal_eye_distance/0.74309089
80MP0002084_abnormal_developmental_patter0.73981057
81MP0003137_abnormal_impulse_conducting0.72923739
82MP0004085_abnormal_heartbeat0.68638538
83MP0002249_abnormal_larynx_morphology0.67623025
84MP0004133_heterotaxia0.66293380
85MP0000313_abnormal_cell_death0.65233351
86MP0002080_prenatal_lethality0.63807333
87MP0003787_abnormal_imprinting0.63762997
88MP0002751_abnormal_autonomic_nervous0.63360424
89MP0000358_abnormal_cell_content/0.62950332
90MP0005380_embryogenesis_phenotype0.62307055
91MP0001672_abnormal_embryogenesis/_devel0.62307055
92MP0001963_abnormal_hearing_physiology0.62075951
93MP0000955_abnormal_spinal_cord0.61629626
94MP0002733_abnormal_thermal_nociception0.60722515
95MP0002752_abnormal_somatic_nervous0.59089389
96MP0002067_abnormal_sensory_capabilities0.58318572
97MP0002734_abnormal_mechanical_nocicepti0.58080788
98MP0002697_abnormal_eye_size0.57221459
99MP0003861_abnormal_nervous_system0.57063959
100MP0001188_hyperpigmentation0.56195727

Predicted human phenotypes

RankGene SetZ-score
1Severe visual impairment (HP:0001141)4.43655592
2Abnormal rod and cone electroretinograms (HP:0008323)3.41294986
3Chronic hepatic failure (HP:0100626)3.22193244
4Attenuation of retinal blood vessels (HP:0007843)3.12604510
5Renal Fanconi syndrome (HP:0001994)3.10020621
6Dynein arm defect of respiratory motile cilia (HP:0012255)3.02606395
7Absent/shortened dynein arms (HP:0200106)3.02606395
8Acute necrotizing encephalopathy (HP:0006965)2.99157626
9Impulsivity (HP:0100710)2.95809324
10Tubulointerstitial nephritis (HP:0001970)2.86274032
11Abnormality of macular pigmentation (HP:0008002)2.85753498
12Type 2 muscle fiber atrophy (HP:0003554)2.77115507
13Multiple enchondromatosis (HP:0005701)2.76407366
14Colon cancer (HP:0003003)2.73512156
15Abnormal mitochondria in muscle tissue (HP:0008316)2.73330852
16Acute encephalopathy (HP:0006846)2.73085500
17Abnormal ciliary motility (HP:0012262)2.71111646
18Reticulocytopenia (HP:0001896)2.66948325
19Mitochondrial inheritance (HP:0001427)2.66004182
20Muscle fiber atrophy (HP:0100295)2.64872482
21Bony spicule pigmentary retinopathy (HP:0007737)2.64493098
22Bilateral microphthalmos (HP:0007633)2.62569859
23Nephronophthisis (HP:0000090)2.59060388
24Increased hepatocellular lipid droplets (HP:0006565)2.56552184
25Hepatocellular necrosis (HP:0001404)2.55277482
26Abnormal respiratory motile cilium physiology (HP:0012261)2.54333300
27Increased CSF lactate (HP:0002490)2.44587970
28Bilateral sensorineural hearing impairment (HP:0008619)2.43539736
29Abnormal number of erythroid precursors (HP:0012131)2.41756682
30Pendular nystagmus (HP:0012043)2.39940067
31Progressive macrocephaly (HP:0004481)2.38917368
32Abnormality of the labia minora (HP:0012880)2.37914319
33Chronic bronchitis (HP:0004469)2.35676657
34Abnormal respiratory epithelium morphology (HP:0012253)2.32555261
35Abnormal respiratory motile cilium morphology (HP:0005938)2.32555261
36Abnormality of cells of the erythroid lineage (HP:0012130)2.29878890
37Methylmalonic acidemia (HP:0002912)2.29778107
38Abnormal spermatogenesis (HP:0008669)2.26986975
39Pancreatic fibrosis (HP:0100732)2.26249982
40Cerebral edema (HP:0002181)2.25925514
41Abnormality of placental membranes (HP:0011409)2.25899207
42Amniotic constriction ring (HP:0009775)2.25899207
43Meckel diverticulum (HP:0002245)2.24896326
44Small intestinal stenosis (HP:0012848)2.23543896
45Duodenal stenosis (HP:0100867)2.23543896
46Abnormal number of incisors (HP:0011064)2.22872880
47Hyperglycinemia (HP:0002154)2.22239921
48Anophthalmia (HP:0000528)2.20911800
49Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.20279664
50Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.19404965
51Aplasia/Hypoplasia of the earlobes (HP:0009906)2.19272920
52Abnormality of the ileum (HP:0001549)2.19037984
53Absent rod-and cone-mediated responses on ERG (HP:0007688)2.18513009
54IgM deficiency (HP:0002850)2.17180535
55Chromosomal breakage induced by crosslinking agents (HP:0003221)2.16470536
56Optic nerve hypoplasia (HP:0000609)2.16088691
57Generalized aminoaciduria (HP:0002909)2.15856752
58Pancreatic cysts (HP:0001737)2.15425493
59Abnormal protein glycosylation (HP:0012346)2.14268037
60Abnormal glycosylation (HP:0012345)2.14268037
61Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.14268037
62Abnormal protein N-linked glycosylation (HP:0012347)2.14268037
63Lipid accumulation in hepatocytes (HP:0006561)2.14171157
64Chromsome breakage (HP:0040012)2.13188231
65Myokymia (HP:0002411)2.12925458
66Abnormality of the duodenum (HP:0002246)2.12867382
67Abnormality of chromosome stability (HP:0003220)2.09570709
68Triphalangeal thumb (HP:0001199)2.08482888
69Aplasia/Hypoplasia of the uvula (HP:0010293)2.07981604
70Abnormality of aspartate family amino acid metabolism (HP:0010899)2.07275013
71Abnormality of renal resorption (HP:0011038)2.05436919
72Type I transferrin isoform profile (HP:0003642)2.04954881
73Hypoplasia of the thymus (HP:0000778)2.04338395
74Azoospermia (HP:0000027)2.03727944
75Methylmalonic aciduria (HP:0012120)2.03397506
76Hepatic necrosis (HP:0002605)2.02969474
77Abnormality of dentin (HP:0010299)2.02516878
78True hermaphroditism (HP:0010459)2.00069226
79Aplastic anemia (HP:0001915)2.00060809
80Birth length less than 3rd percentile (HP:0003561)1.99524933
81Abnormality of methionine metabolism (HP:0010901)1.99453626
82Hyperkalemia (HP:0002153)1.97483910
83Poor suck (HP:0002033)1.97423842
84Abnormality of urine glucose concentration (HP:0011016)1.97322394
85Glycosuria (HP:0003076)1.97322394
86Tinnitus (HP:0000360)1.95807028
87Decreased activity of mitochondrial respiratory chain (HP:0008972)1.95099752
88Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.95099752
89Optic disc pallor (HP:0000543)1.91789192
90Macrocytic anemia (HP:0001972)1.89954751
91Abnormality of the parathyroid morphology (HP:0011766)1.86992513
92Abnormality of sulfur amino acid metabolism (HP:0004339)1.86592865
93Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.84414898
94Absent epiphyses (HP:0010577)1.84414898
95Abnormality of the renal medulla (HP:0100957)1.83474329
96Intestinal atresia (HP:0011100)1.82473570
97Oral leukoplakia (HP:0002745)1.82300244
98Growth hormone deficiency (HP:0000824)1.79369144
99Abnormality of serum amino acid levels (HP:0003112)1.78695448
100Thyroid-stimulating hormone excess (HP:0002925)1.76297030

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PLK46.38249848
2VRK24.14141229
3CDC73.15946725
4SRPK12.66743443
5PLK22.58331125
6TESK12.39864654
7ZAK2.37797351
8MKNK12.35281180
9PNCK2.21973482
10VRK12.17747131
11INSRR2.11811976
12PLK32.06680022
13NME22.02257022
14MAP4K21.89665233
15TTK1.86502330
16MKNK21.85170181
17TNIK1.77615052
18NEK11.68005360
19TAF11.67159984
20TRIM281.62065112
21PBK1.57436911
22STK38L1.56371565
23WNK31.50296158
24TSSK61.47416712
25BUB11.35821829
26STK161.35490422
27BRD41.35213159
28CDK191.35064706
29NUAK11.30900327
30DYRK21.25734908
31MST41.16978291
32DDR21.16897899
33SIK31.15040709
34PLK11.11421388
35PASK1.09873143
36BMPR1B1.04239645
37CSNK1G11.02112451
38CSNK1G31.01803216
39ATR0.96462969
40TIE10.95431633
41CSNK1G20.95302118
42PINK10.94783717
43KDR0.91100125
44EIF2AK10.89217869
45CSNK1A1L0.86470095
46NME10.85346762
47CDK70.85030403
48CAMK1G0.83505820
49CHEK20.81701292
50TESK20.81249941
51PRKG20.80377688
52MAPKAPK50.79105789
53PIK3CG0.73264714
54GRK10.72290900
55EIF2AK30.69079775
56BRSK20.67868605
57AURKA0.67817381
58CHEK10.65354312
59AURKB0.65009971
60BCKDK0.64599149
61STK380.64324979
62ATM0.63369090
63OXSR10.62398218
64SIK20.61864991
65NEK60.59273625
66PRKCG0.59091538
67MAP3K110.57240521
68ADRBK20.55494800
69CDK20.55480662
70MAP3K40.54159034
71MAPK150.53496097
72CSNK2A20.50793358
73CDK10.49283342
74CDK30.48832262
75MAP3K100.45887221
76CSNK2A10.45804926
77DYRK30.42043204
78CSNK1A10.41066347
79OBSCN0.40771879
80CDK80.40731553
81NEK20.40197970
82PIM20.39907511
83CSNK1E0.39881677
84TLK10.39678435
85RPS6KA50.39634384
86ALK0.38547484
87FLT30.37998991
88RPS6KA40.37114912
89CAMK10.37108811
90PDK20.36098321
91ACVR1B0.35506700
92ERBB40.34965590
93WNK10.34959892
94KIT0.32780559
95WEE10.32681522
96TEC0.31737556
97PRKDC0.30732643
98PRKG10.30671564
99RPS6KA10.30349972
100MARK30.30155256

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.52560595
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.50365278
3Mismatch repair_Homo sapiens_hsa034303.13498415
4DNA replication_Homo sapiens_hsa030303.07908506
5Ribosome_Homo sapiens_hsa030103.02411822
6RNA transport_Homo sapiens_hsa030132.77615064
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.74700770
8Oxidative phosphorylation_Homo sapiens_hsa001902.61559015
9Homologous recombination_Homo sapiens_hsa034402.60157840
10RNA polymerase_Homo sapiens_hsa030202.57661592
11One carbon pool by folate_Homo sapiens_hsa006702.47361686
12Parkinsons disease_Homo sapiens_hsa050122.44328250
13Base excision repair_Homo sapiens_hsa034102.30553191
14Basal transcription factors_Homo sapiens_hsa030222.23866951
15Huntingtons disease_Homo sapiens_hsa050162.09363612
16Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.99616514
17Spliceosome_Homo sapiens_hsa030401.96732834
18Fanconi anemia pathway_Homo sapiens_hsa034601.89872855
19Non-homologous end-joining_Homo sapiens_hsa034501.83490051
20Nucleotide excision repair_Homo sapiens_hsa034201.79159775
21Selenocompound metabolism_Homo sapiens_hsa004501.74172250
22RNA degradation_Homo sapiens_hsa030181.67882372
23Fatty acid biosynthesis_Homo sapiens_hsa000611.65625300
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.60013913
25Propanoate metabolism_Homo sapiens_hsa006401.55685782
26Pyruvate metabolism_Homo sapiens_hsa006201.49483864
27Cardiac muscle contraction_Homo sapiens_hsa042601.49129669
28Phototransduction_Homo sapiens_hsa047441.45726528
29Purine metabolism_Homo sapiens_hsa002301.42544578
30Olfactory transduction_Homo sapiens_hsa047401.40321589
31Alzheimers disease_Homo sapiens_hsa050101.39062652
32Butanoate metabolism_Homo sapiens_hsa006501.38530860
33Pyrimidine metabolism_Homo sapiens_hsa002401.31037026
34Protein export_Homo sapiens_hsa030601.28992010
35mRNA surveillance pathway_Homo sapiens_hsa030151.25767495
36Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.24194837
37Cell cycle_Homo sapiens_hsa041101.21089198
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.19249455
39Glutathione metabolism_Homo sapiens_hsa004801.10976883
40Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.04694144
41Biosynthesis of amino acids_Homo sapiens_hsa012301.02673891
42Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.02251448
43Carbon metabolism_Homo sapiens_hsa012001.00661360
44Cysteine and methionine metabolism_Homo sapiens_hsa002701.00260917
45Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.99450727
46Taste transduction_Homo sapiens_hsa047420.93747317
47Folate biosynthesis_Homo sapiens_hsa007900.91511280
482-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.87355763
49Peroxisome_Homo sapiens_hsa041460.86427378
50Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.84209049
51Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.82454131
52Oocyte meiosis_Homo sapiens_hsa041140.79181981
53Nicotine addiction_Homo sapiens_hsa050330.75594909
54Metabolic pathways_Homo sapiens_hsa011000.73267651
55Fatty acid degradation_Homo sapiens_hsa000710.71655832
56Retinol metabolism_Homo sapiens_hsa008300.70281131
57Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.67795647
58Fatty acid metabolism_Homo sapiens_hsa012120.65535781
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.65285949
60Glycerophospholipid metabolism_Homo sapiens_hsa005640.58691877
61Fatty acid elongation_Homo sapiens_hsa000620.57383479
62Hedgehog signaling pathway_Homo sapiens_hsa043400.57200114
63Steroid biosynthesis_Homo sapiens_hsa001000.56092740
64Pentose and glucuronate interconversions_Homo sapiens_hsa000400.54820048
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.54682513
66Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.51735530
67Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.50196562
68Arginine and proline metabolism_Homo sapiens_hsa003300.48162812
69Vitamin digestion and absorption_Homo sapiens_hsa049770.47914209
70Chemical carcinogenesis_Homo sapiens_hsa052040.45665299
71Linoleic acid metabolism_Homo sapiens_hsa005910.44538344
72Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.44162046
73Morphine addiction_Homo sapiens_hsa050320.43952017
74Nitrogen metabolism_Homo sapiens_hsa009100.41651541
75Basal cell carcinoma_Homo sapiens_hsa052170.39505702
76GABAergic synapse_Homo sapiens_hsa047270.39412649
77Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.38563873
78Fat digestion and absorption_Homo sapiens_hsa049750.38016091
79Arginine biosynthesis_Homo sapiens_hsa002200.35226101
80Thyroid cancer_Homo sapiens_hsa052160.34770556
81Tight junction_Homo sapiens_hsa045300.34666970
82beta-Alanine metabolism_Homo sapiens_hsa004100.32911348
83Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32867162
84Vitamin B6 metabolism_Homo sapiens_hsa007500.31804910
85Caffeine metabolism_Homo sapiens_hsa002320.31558789
86Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.30484910
87Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.30190080
88Phenylalanine metabolism_Homo sapiens_hsa003600.29092527
89Tyrosine metabolism_Homo sapiens_hsa003500.27992895
90Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.26929067
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26591681
92Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.26278413
93Wnt signaling pathway_Homo sapiens_hsa043100.26165654
94Serotonergic synapse_Homo sapiens_hsa047260.24372000
95Glycerolipid metabolism_Homo sapiens_hsa005610.23812604
96Maturity onset diabetes of the young_Homo sapiens_hsa049500.22896469
97Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.21256965
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.21121804
99Hippo signaling pathway_Homo sapiens_hsa043900.20368642
100p53 signaling pathway_Homo sapiens_hsa041150.19520681

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